Search

Your search keyword '"van Spronsen, Francjan J"' showing total 642 results

Search Constraints

Start Over You searched for: Author "van Spronsen, Francjan J" Remove constraint Author: "van Spronsen, Francjan J"
642 results on '"van Spronsen, Francjan J"'

Search Results

2. Tyrosine Metabolism

7. High-dose ERT, rituximab, and early HSCT in an infant with Wolman’s disease

8. Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU‐MOMs sub‐registries

11. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone

13. Phenylketonuria

16. A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

18. What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?

19. Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles

20. Dietary Considerations in Tyrosinemia Type I

22. Liver Cancer in Tyrosinemia Type 1

23. Phenylalanine effects on brain function in adult phenylketonuria

25. Newborn screening for primary carnitine deficiency: who will benefit? – a retrospective cohort study

28. Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice

29. Key European guidelines for the diagnosis and management of patients with phenylketonuria

31. Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

32. Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

34. A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

35. Newborn screening for primary carnitine deficiency:Who will benefit? - A retrospective cohort study

36. A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

37. Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study

39. Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

44. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

45. Can untreated PKU patients escape from intellectual disability? A systematic review

49. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

50. Caring for Ukrainian refugee children with acute and chronic diseases

Catalog

Books, media, physical & digital resources